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Hereditary sensory and autonomic neuropathy type 4

ORPHA:642 · Disease · Disorder

HPO 表現型（共 56 項）

Very frequent (99-80%)(9)

  • Abnormality of peripheral nerve conductionHP:0003134
  • AnhidrosisHP:0000970
  • Aplasia of the sweat glandsHP:0011136
  • Impaired temperature sensationHP:0010829
  • Intellectual disabilityHP:0001249
  • OsteomyelitisHP:0002754
  • Pain insensitivityHP:0007021
  • Recurrent Staphylococcus aureus infectionHP:0002726
  • Self-mutilationHP:0000742

Frequent (79-30%)(15)

  • Abnormality of humoral immunityHP:0005368
  • Abnormality of lower limb jointHP:0100491
  • AbscessHP:0025615
  • Atypical scarring of skinHP:0000987
  • Dry skinHP:0000958
  • FasciitisHP:0100537
  • Gait disturbanceHP:0001288
  • LichenificationHP:0100725
  • Nail-bitingHP:0012170
  • Neuropathic arthropathyHP:0002821
  • Painless fractures due to injuryHP:0002661
  • Premature loss of teethHP:0006480
  • Recurrent feverHP:0001954
  • Specific learning disabilityHP:0001328
  • Trophic limb changesHP:0003091

Occasional (29-5%)(26)

  • Abnormal emotional stateHP:0100851
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal lumbar spine morphologyHP:0100712
  • Abnormality of the ankleHP:0003028
  • Abnormality of the autonomic nervous systemHP:0002270
  • Alveolar ridge overgrowthHP:0009085
  • AnemiaHP:0001903
  • Avascular necrosisHP:0010885
  • Bruising susceptibilityHP:0000978
  • Decreased corneal reflexHP:0008000
  • Distal sensory impairmentHP:0002936
  • DysphagiaHP:0002015
  • Feeding difficultiesHP:0011968
  • Functional motor deficitHP:0004302
  • Growth delayHP:0001510
  • HyperactivityHP:0000752
  • ImpulsivityHP:0100710
  • Orthostatic hypotension due to autonomic dysfunctionHP:0004926
  • Recurrent aspiration pneumoniaHP:0002100
  • Septic arthritisHP:0003095
  • Short attention spanHP:0000736
  • Somatic sensory dysfunctionHP:0003474
  • SyncopeHP:0001279
  • Tongue painHP:0030811
  • Tooth abscessHP:0030757
  • Unexplained feversHP:0001955

Very rare (<4-1%)(6)

  • Chronic kidney diseaseHP:0012622
  • Corneal scarringHP:0000559
  • Corneal ulcerationHP:0012804
  • HyperesthesiaHP:0100963
  • HyperhidrosisHP:0000975
  • HypothermiaHP:0002045